When I called 911 in a panic from crushing chest pain, the paramedics told me that, as a young woman, it was highly unlikely that I could be suffering from a heart attack. I knew I was at higher risk for heart disease because my cholesterol level had been above 300 since I was a teenager. I had no idea how at-risk I actually was. It turns out that I had a complete blockage of the main artery in my heart.

With the recent FDA approval of Praluent, the first in a new class of cholesterol medications called PCSK9 inhibitors, many people with severe forms of inherited high cholesterol may have a much-needed treatment option. This new high cholesterol drug could be life-saving news for the 650,000 to 1.5 million people in the United States who, like me, are living with FH.

A Life-Threatening Genetic Heart Condition You’ve Never Heard Of

People with FH are born with a genetic mutation that causes LDL cholesterol to build up in the bloodstream, including the vessels that supply the heart with blood. As a result, people with FH are at a significant risk of heart attack or stroke at a young age – for many, as young as in their twenties, thirties, and forties.

Familial hypercholesterolemia is the most common life-threatening autosomal-dominant condition in the world. Autosomal dominant means that both boys and girls can inherit the condition, and even one copy of the gene causes the disease. And yet, very few people have ever heard of FH. Even many doctors are unaware of how common and severe it is. According to a recent U.S. survey of 500 cardiologists, 70 percent did not recognize FH in case studies, and 80 percent were unaware of the condition’s prevalence.

None of the cardiologists surveyed knew that people with FH are 20 times more likely to have a premature heart attack.

FH affects 1 in 200 to 500 people worldwide. Tragically, 90 percent of people with FH are undiagnosed, yet heart disease remains the No. 1 killer. Every 40 seconds, an American dies from a heart attack or stroke, according to the American Heart Association. For those with FH, these cardiac events are not caused by poor diet or lifestyle choices: Our own genes were to blame.

For people like me who have FH, diet and exercise will never be enough. Because of the lifelong cumulative exposure, FH needs to be distinguished from normally-acquired high cholesterol. Familial hypercholesterolemia requires proactive management with medications; that is why the news from the FDA last week is so important. Even with existing medications, people with FH rarely reach optimal LDL levels. The approval of Praluent, and this new class of therapies, speak to the importance of continued investment in medical research.

Inherited High Cholesterol: Protect Your Kids and Grandchildren

FH is a family condition. Each child of someone with FH has a 50 percent chance of inheriting the genetic mutation. For parents, this reality can be devastating.

When my first daughter, Ella, was 2 years old, we had her screened according to American Academy of Pediatrics guidelines. These guidelines suggest that children with a family history of high cholesterol and early heart disease should be screened as early as age 2. Sadly, she had inherited FH from me.

I decided to start the FH Foundation when it hit home that I was not only fighting for my life, but for that of my children and my grandchildren. This is the only advocacy and research organization in the United States that is dedicated to this condition.

For people with FH, the single biggest barrier to care is lack of an accurate diagnosis: It’s estimated that 90 percent of people with FH have not yet been diagnosed. We must find them. To do this, the FH Foundation has launched an innovative effort to identify people with probable FH. This program, called FIND FH (Flag, Identify, Network, Deliver), uses predictive analytics, including machine learning, to identify people with probable FH.

Once diagnosed, a person with FH, as well as family members at risk, will be able to opt into a range of patient support services from the Foundation, including the CASCADE registry.

This is a time of great hope. With the advent of new therapies, there is even more urgency to identify everyone who has FH so that they can get the care they need.

I am optimistic that my daughter, Ella, who is now 8 years old, will have the opportunity to live a full life. And I am hopeful that I will live to one day meet my grandchildren.

Katherine Anne Wilemon is founder, president, and CEO of the FH Foundation, a nonprofit organization dedicated to raising awareness of familial hypercholesterolemia through research, education, and advocacy. Her own struggle to receive a proper diagnosis and optimum medical care led her to become an advocate for individuals with this life-threatening genetic disorder. She lives in San Marino, California, with her husband, Larry, and their two daughters Ella and Avery, shown in the photo above. Find more information about FH at the FH Foundation.

Last Updated:7/29/2015

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